Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
196528
Gene name Gene Name - the full gene name approved by the HGNC.
AT-rich interaction domain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARID2
Synonyms (NCBI Gene) Gene synonyms aliases
BAF200, CSS6, SMARCF3, ZIPZAP, p200
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSS6
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs772995852 C>G,T Likely-pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs774801990 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs796052241 C>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1555139310 C>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555148625 T>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001569 hsa-miR-155-5p Luciferase reporter assay 18367535
MIRT001569 hsa-miR-155-5p Luciferase reporter assay 18367535
MIRT001569 hsa-miR-155-5p pSILAC 18668040
MIRT001384 hsa-miR-1-3p pSILAC 18668040
MIRT001569 hsa-miR-155-5p Reporter assay;Other 20584899
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003007 Process Heart morphogenesis IEA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 15985610, 22140357, 24981860, 30108113, 31759698
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609539 18037 ENSG00000189079
Protein
UniProt ID Q68CP9
Protein name AT-rich interactive domain-containing protein 2 (ARID domain-containing protein 2) (BRG1-associated factor 200) (BAF200) (Zinc finger protein with activation potential) (Zipzap/p200)
Protein function Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in ta
PDB 7VDV , 7Y8R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01388 ARID 15 101 ARID/BRIGHT DNA binding domain Domain
PF02257 RFX_DNA_binding 521 603 RFX DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart. {ECO:0000269|PubMed:16782067}.
Sequence
MANSTGKAPPDERRKGLAFLDELRQFHHSRGSPFKKIPAVGGKELDLHGLYTRVTTLGGF
AKVSEKNQWGEIVEEFNFPRSCSNAAFALKQYYLRYLEKYE
KVHHFGEDDDEVPPGNPKP
QLPIGAIPSSYNYQQHSVSDYLRQSYGLSMDFNSPNDYNKLVLSLLSGLPNEVDFAINVC
TLLSNESKHVMQLEKDPKIITLLLANAGVFDDTLGSFSTVFGEEWKEKTDRDFVKFWKDI
VDDNEVRDLISDRNKSHEGTSGEWIWESLFHPPRKLGINDIEGQRVLQIAVILRNLSFEE
GNVKLLAANRTCLRFLLLSAHSHFISLRQLGLDTLGNIAAELLLDPVDFKTTHLMFHTVT
KCLMSRDRFLKMRGMEILGNLCKAEDNGVLICEYVDQDSYREIICHLTLPDVLLVISTLE
VLYMLTEMGDVACTKIAKVEKSIDMLVCLVSMDIQMFGPDALAAVKLIEHPSSSHQMLSE
IRPQAIEQVQTQTHVASAPASRAVVAQHVAPPPGIVEIDSEKFACQWLNAHFEVNPDCSV
SRAEMYSEYLSTCSKLARGGILTSTGFYKCLRTVFPNHTVKRVEDSSSNGQAHIHVVGVK
RRA
IPLPIQMYYQQQPVSTSVVRVDSVPDVSPAPSPAGIPHGSQTIGNHFQRTPVANQSS
NLTATQMSFPVQGVHTVAQTVSRIPQNPSPHTHQQQNAPVTVIQSKAPIPCEVVKATVIQ
NSIPQTGVPVSIAVGGGPPQSSVVQNHSTGPQPVTVVNSQTLLHHPSVIPQQSPLHTVVP
GQIPSGTPVTVIQQAVPQSHMFGRVQNIPACTSTVSQGQQLITTSPQPVQTSSQQTSAGS
QSQDTVIIAPPQYVTTSASNIVSATSVQNFQVATGQMVTIAGVPSPQASRVGFQNIAPKP
LPSQQVSSTVVQQPIQQPQQPTQQSVVIVSQPAQQGQTYAPAIHQIVLANPAALPAGQTV
QLTGQPNITPSSSPSPVPATNNQVPTAMSSSSTPQSQGPPPTVSQMLSVKRQQQQQHSPA
PPPQQVQVQVQQPQQVQMQVQPQQSNAGVGQPASGESSLIKQLLLPKRGPSTPGGKLILP
APQIPPPNNARAPSPQVVYQVASNQAAGFGVQGQTPAQQLLVGQQNVQLVPSAMPPSGGV
QTVPISNLQILPGPLISNSPATIFQGTSGNQVTITVVPNTSFAPATVSQGNATQLIAPAG
ITMSGTQTGVGLPVQTLPATQASPAGQSSCTTATPPFKGDKIICQKEEEAKEATGLHVHE
RKIEVMENPSCRRGATNTSNGDTKENEMHVGSLLNGRKYSDSSLPPSNSGKIQSETNQCS
LISNGPSLELGENGASGKQNSEQIDMQDIKSDLRKPLVNGICDFDKGDGSHLSKNIPNHK
TSNHVGNGEISPMEPQGTLDITQQDTAKGDQLERISNGPVLTLGGSSVSSIQEASNAATQ
QFSGTDLLNGPLASSLNSDVPQQRPSVVVSPHSTTSVIQGHQIIAVPDSGSKVSHSPALS
SDVRSTNGTAECKTVKRPAEDTDRETVAGIPNKVGVRIVTISDPNNAGCSATMVAVPAGA
DPSTVAKVAIESAVQQKQQHPPTYVQNVVPQNTPMPPSPAVQVQGQPNSSQPSPFSGSSQ
PGDPMRKPGQNFMCLWQSCKKWFQTPSQVFYHAATEHGGKDVYPGQCLWEGCEPFQRQRF
SFITHLQDKHCSKDALLAGLKQDEPGQAGSQKSSTKQPTVGGTSSTPRAQKAIVNHPSAA
LMALRRGSRNLVFRDFTDEKEGPITKHIRLTAALILKNIGKYSECGRRLLKRHENNLSVL
AISNMEASSTLAKCLYELNFTVQSKEQEKDSEMLQ
Sequence length 1835
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Hepatocellular carcinoma
  RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474
Anterior pituitary dysgenesis Anterior pituitary dysgenesis rs1553922583
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Coffin-Siris syndrome Coffin-Siris syndrome 6 GenCC
Diabetes Diabetes GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abdominal Neoplasms Associate 31292535
Adenocarcinoma Associate 26998897, 29522538, 35046897
Adenocarcinoma of Lung Associate 35144623, 37327699
Adenoma Associate 27175599
Alcoholism Associate 28981154
Ataxia Telangiectasia Associate 27203213
Bipolar Disorder Associate 37248276
Breast Neoplasms Associate 33592583, 38003265
Breast Neoplasms Male Associate 38369186
Carcinogenesis Associate 25502816